Montréal researchers discover a new crucial gene associated with leukodystrophies

An international research team, led by Dr. Geneviève Bernard from the Research Institute of the McGill University Health Centre (RI-MUHC) and Dr. Benoit Coulombe from the Institut de recherches cliniques de Montréal (IRCM), has identified a new gene associated with 4H leukodystrophy, one of the common forms of the disease. Their findings have been published in the journal Nature Communications this week.

"We are finally starting to better understand this terrible disease. By discovering mutations on this new gene called POLR1C, which account for nearly 10 per cent of cases with this type of leukodystrophy, we now have a better idea of the impact they have on nervous system cells," says one of the principal co-authors, Dr. Bernard, neurologist at the Montreal Children's Hospital of the MUHC (MCH-MUHC) at the Glen site and assistant professor of Neurology and Neurosurgery at McGill University.